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NM_000075.4(CDK4):c.132_143dup (p.Gly45_Gly48dup)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 17, 2020
Accession:
VCV000844832.2
Variation ID:
844832
Description:
12bp duplication
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NM_000075.4(CDK4):c.132_143dup (p.Gly45_Gly48dup)

Allele ID
840180
Variant type
Duplication
Variant length
12 bp
Cytogenetic location
12q14.1
Genomic location
12: 57751574-57751575 (GRCh38) GRCh38 UCSC
12: 58145357-58145358 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.58145367_58145378dup
NC_000012.12:g.57751584_57751595dup
NG_007484.2:g.5796_5807dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:57751574:CCTCCTCCACCTCCTCCTCCA:CCTCCTCCACCTCCTCCTCCACCTCCTCCTCCA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 17, 2020 RCV001047782.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CDK4 No evidence available No evidence available GRCh38
GRCh37
341 563

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 17, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary melanoma
Allele origin: germline
Invitae
Accession: SCV001211762.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This variant, c.132_143dup, results in the insertion of 4 amino acid(s) to the CDK4 protein (p.Gly45_Gly48dup), but otherwise preserves the integrity of the reading frame. … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021